Primary mitochondrial diseases in African populations – comment on “Mitochondria dysfunctional diseases among African population since the discovery of mitochondrial pathologies: a systematic review”

Abstract

Abstract Primary mitochondrial diseases (PMD) remain under-investigated and under-reported in African populations, as highlighted in a recent systematic review by Ayamdoo et al. entitled “Mitochondria dysfunctional diseases among African population since the discovery of mitochondrial pathologies: a systematic review”. Building on the data included in their review, we highlight a unique dataset that was omitted, likely due to limited access to the full text article. South Africa currently has the largest African cohort reported by Meldau et al. in 2022, comprising 155 patients, including 113 with known mtDNA pathogenic variants and diverse clinical syndromes such as MELAS, LHON, and single large-scale mtDNA deletion disorders. Additional key findings include a prevalent MPV17 founder variant causing autosomal recessive mitochondrial neurohepatopathy in 24 infants, with a high carrier frequency in the South African non-consanguineous Black population. Recent work further demonstrated that pathogenic mtDNA variants occur across multiple African L-haplogroups, showing similar phenotypes to global populations and supporting the utility of cost-effective targeted mtDNA screening approaches. Collectively, these studies highlight meaningful progress in defining PMD in Africa yet underscores the need for expanded nuclear DNA-based research and diagnostic capacity building.